ESPE Abstracts

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

Background: There is a clear need for improved patient-centric approaches in the treatment of chronic conditions, including paediatric growth hormone deficiency (GHD). Greater understanding of the patient’s treatment journey has the potential to inform clinical decisions and to improve clinical- and patient-reported outcomes. Connected Health (CH) combines state-of-the-art technologies, tools, methodologies and analytics to create new patient-centric hea...

Background: Smartphones are becoming increasingly popular and powerful across the globe, which, in turn, has provided unforeseen opportunities in the digital health space. The increased capabilities of smartphones have allowed the incorporation of Augmented Reality (AR) capabilities that merge input from their cameras with additional, augmented annotations and representations. While there has been research on the use of AR in managing paediatric diabetes,1 to ...

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

Introduction: The conventional approach to the treatment of Beta- thalassemia major (BTM) is based on the correction of hemoglobin status through regular blood transfusions and iron chelation therapy for iron overload. Allogeneic hematopoietic stem cell transplantation (HCT) remains the only currently available technique that has curative potential. No previous study compared the long-term growth and endocrinopathy changes among large cohorts of BTM patients o...

Purpose: Therapeutic goals in the adolescent male with hypogonadotropic hypogonadism(HH) are virilization, optimal adult height, normal bone mass, body composition, psychosocial development, and fertility. Until recently, only testosterone was used to treat adolescent males with HH. However, this treatment did not cover all treatment goals and adverse effects on fertility were reported. Therefore, gonadotropin therapy can be used in addition to testosterone in...

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...

Exposure to abdominal radiation for childhood cancer has been associated with an increased risk of gastrointestinal polyps and neoplasia. These patients have a similar risk of developing colorectal cancer (CRC) as those with two or more first-degree relatives with CRC. There has been an inconsistency in clinical practice guidelines, partly due to limited evidence that treatment-associated colorectal cancer has a preceding screen-detectable phase. The previous recommendation fr...